Article
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
Neuromuscular disorders : NMD - 1 Jun 2009
Almomani Rowida, van der Stoep Nienke, Bakker Egbert, den Dunnen Johan T, Breuning Martijn H, Ginjaar Ieke B
Abstract excerpt
Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by large deletions or duplications in two-thirds of the cases. The remaining one-third DMD patients have small mutations in the DMD gene. Screening for such small mutations is a daunting and costly task. High resolution melting curve analysis (HR-MCA) followed by sequencing for amplicons with altered melting profiles can be used to scan DNA for small...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.